Variant report

Variant	rs12964548
Chromosome Location	chr18:24492482-24492483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12962943	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12965283	0.83[ASN][1000 genomes]
rs12970341	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16942942	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71353412	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761995	chr18:24214286-24502570	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv833600	chr18:24473894-24681019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv909472	chr18:24479960-24614192	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24488200-24492600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr18:24488400-24501200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:24490000-24499400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr18:24490400-24500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:24490600-24499800	Weak transcription	HepG2	liver
6	chr18:24491200-24499800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:24491600-24492600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:24491600-24492600	Enhancers	Fetal Kidney	kidney
9	chr18:24491800-24493000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:24492000-24492800	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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